WormBase Tree Display for Variation: WBVar00094674
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WBVar00094674 | Evidence | Paper_evidence | WBPaper00027609 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | or78 | |||||||
Other_name | CE34955:p.Ser374_Asn428del | ||||||||
R06B9.6.1:c.1120_1284del | |||||||||
HGVSg | CHROMOSOME_II:g.13747866_13748030del | ||||||||
Sequence_details | SMap | S_parent | Sequence | R06B9 | |||||
Flanking_sequences | cgcggaatccagctctacgatcctttctac | cgacggcttaaagtggagggagtgatctac | |||||||
Mapping_target | R06B9 | ||||||||
Type_of_mutation | Deletion | ||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00007272 | ||||||||
Laboratory | EU | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00305552 | |||||||
WBGene00003246 | |||||||||
Transcript | R06B9.7 | ||||||||
R06B9.6.1 | VEP_consequence | inframe_deletion | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | R06B9.6.1:c.1120_1284del | ||||||||
HGVSp | CE34955:p.Ser374_Asn428del | ||||||||
cDNA_position | 1134-1298 | ||||||||
CDS_position | 1120-1284 | ||||||||
Protein_position | 374-428 | ||||||||
Exon_number | 9/11 | ||||||||
Codon_change | AGTGTCTGGTCATCACCGACAGGCTCACAGATCGCCTATTTCGCGATTTTCATCTCCGCCATCAGCACCGTCGCCTATTTTATTTTTCTTTTCTTCAAAATCGCCAGGGTTTGGAGCACAATCAAGAGCAAACGGAGTGCTCAAATCTATCAAACGAGCGAAAAT/- | ||||||||
Amino_acid_change | SVWSSPTGSQIAYFAIFISAISTVAYFIFLFFKIARVWSTIKSKRSAQIYQTSEN/- | ||||||||
Genetics | Interpolated_map_position | II | 20.2561 | ||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Data not shown | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | High | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000038 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Data not shown | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000052 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Complete | 100 percent | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Data not shown | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000697 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Data not shown | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000760 | Paper_evidence | WBPaper00002870 | |||||||
WBPaper00003645 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson2987 | |||||||||
Remark | ABar divides roughly parallel (instead of orthogonal) to the other AB descendants in mom mutants | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
In mom-3/mig-14(or78) mutants, the EMS cell exhibited spindle orientation defects, with significant dorsal/ventral or left/right orientation components, in contrast to the normally anterior/posterior orientation of the wild type EMS spindle (Figure 1C). | Paper_evidence | WBPaper00003645 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
In EMS cells derived from isolated P1 blastomeres from mom-3/mig-14(or78) mutants, spindles exhibited orientation defects, with a wide range of orientation angles, showing nearly random orientations (Figure 1D, 2). | Paper_evidence | WBPaper00003645 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
In EMS blastomeres isolated from wild type embryos and placed in contact with isolated mom-3/mig-14(or78) mutant P2 blastomeres, EMS spindles exhibited orientation defects suggesting that mom-3 is required in P2 for proper EMS spindle orientation (Figure 4A). | Paper_evidence | WBPaper00003645 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Penetrance | Complete | 100 percent | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006411 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0006876 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBbt:0006873 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00002870 | |||||
WBPaper00003645 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson2987 | |||||||||
WBls:0000008 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBls:0000071 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Maternal | |||||||||
Phenotype_assay | Treatment | Authors isolated the smaller, posterior-most blastomere in a two-cell-stage embryo, called P1, and allowed it to divide into its daughters, P2 and EMS. The orientation of the mitotic spindle in EMS was then measured relative to the plane of contact between EMS and P2. | Paper_evidence | WBPaper00003645 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
For genetically mosaic partial embryos, wild-type and mutant early EMS and P2 blastomeres were concurrently isolated. EMS and P2 were recombined early in the EMS cell cycle allowing the cells to be in contact for at least 9 min before EMS cytokinesis. | Paper_evidence | WBPaper00003645 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0001635 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Mutant embryos make large amounts of pharynx | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
Phenotype_assay | Treatment | staining with 9.2.1 antibody (stains pharyngeal-specific muscle cells) | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature | 20C | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001637 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Most mutant embryos entirely lack intestinal cells | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Penetrance | Incomplete | 65 percent | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Maternal | |||||||||
Phenotype_assay | Treatment | Intact embryos were examined by scoring intestinal birefringence | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature | 20C | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000760 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | In EMS blastomeres isolated from mom-3/mig-14(or78) mutant embryos and placed in contact with isolated wild type P2 blastomeres, EMS spindles exhibited wild type orientation suggesting that mom-3 is dispensable in EMS for proper EMS spindle orientation (Figure 4A). | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006876 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||
Curator_confirmed | WBPerson2987 | ||||||||
WBbt:0006873 | PATO:0000460 | Paper_evidence | WBPaper00003645 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00003645 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Phenotype_assay | Treatment | For genetically mosaic partial embryos, wild-type and mutant early EMS and P2 blastomeres were concurrently isolated. EMS and P2 were recombined early in the EMS cell cycle allowing the cells to be in contact for at least 9 min before EMS cytokinesis. | Paper_evidence | WBPaper00003645 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
WBPhenotype:0001302 | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | P granule localization is normal | Paper_evidence | WBPaper00002870 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00002870 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00002870 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Treatment | staining with OIC1D4 monoclonal antibody (stains P granules) | Paper_evidence | WBPaper00002870 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00003645 | ||||||||
WBPaper00002870 | |||||||||
WBPaper00027609 | |||||||||
Method | Deletion_allele |